What Conditions are Associated with Mutations in These Genes?
Mutations in the BCKDHA, BCKDHB, and DBT genes are commonly linked to a condition known as Maple Syrup Urine Disease (MSUD). MSUD is a rare but serious metabolic disorder that inhibits the body's ability to break down certain amino acids, leading to a toxic buildup that can cause severe health issues if not managed appropriately.
